Search Ontology:
Human Disease

rippling muscle disease 2

Term ID
DOID:0060255
Synonyms
  • autosomal dominant limb-girdle muscular dystrophy type 1C
Definition
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (2)
References
  • GARD:9164
  • MIM:606072
  • ORDO:265
  • ORDO:97238
  • SNOMEDCT_US_2023_03_01:709281006
  • UMLS_CUI:C1853698
Ontology
Human Disease   ( DOID:0060255 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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